Alveolárny sarkóm mäkkých tkanív u dieťaťa – opis prípadu

Czech version

Authors: V. Bartoš ¹; D. Sejnová ²; A. Skálová ^3,4; I. Béder ⁵
Authors‘ workplace: Martinské bioptické centrum, s. r. o., Martin, Slovenská republika ¹; Klinika detskej hematológie a onkológie, Národný ústav detských chorôb, Bratislava, Slovenská republika ²; Šiklův patologický ústav LF v Plzni UK a FN Plzeň, Česká republika ³; Bioptická laboratoř s. r. o., Plzeň, Česká Republika ⁴; Klinika detskej chirurgie, Národný ústav detských chorôb, Bratislava, Slovenská republika ⁵
Published in: Klin Onkol 2023; 36(5): 396-400
Category: Case Report
doi: https://doi.org/10.48095/ccko2023396

Overview

Background: Alveolar soft part sarcoma (ASPS) is a very rare mesenchymal malignancy of uncertain origin. It mostly affects young people, with about a quarter of cases being diagnosed in children.

Case: An 11-year-old girl had a painless subcutaneous “lump” in the left elbow area. Imaging exams revealed a solid soft-tissue intramuscular mass of suspicious appearance. A surgical excision of lesion was performed. The biopsy consisted of a lobular tumor measuring 35 × 20 × 12 mm. Histology revealed an epithelioid-cell population arranged in organoid pseudoalveolar pattern. It immunohistochemically expressed TFE3 and harbored the ASPSCR1:: TFE3 gene fusion. A diagnosis of ASPS was established. Subsequently, a wide re-excision of the scar was performed without microscopic residual tumor. The patient is currently without evidence of local recurrence or metastasis.

Conclusion: ASPS is considered an aggressive and prognostically unfavorable chemoresistant neoplasm. Children have a better prognosis compared to adults. Early detection of tumor in a localized stage with complete surgical removal remains a mainstay therapeutic option. Due to its tendency to late metastases, a long-term thorough follow-up of the patient is necessary.

Keywords:

alveolar soft part sarcoma – ASPSCR1:: TFE3

Sources

1. Scepanovic D, Masarykova A, Pobijakova M et al. Multiple metachronous malignant fibrous histiocytomas of the upper limbs – a case report. Klin Onkol 2014; 27 (6): 438–441.

2. Šimůnek R, Adámková-Krákorová D, Šefr R et al. Resekce sarkomu dutiny břišní, pánve a retroperitonea. Klin Onkol 2018; 31 (3): 230–234. doi: 10.14735/amko2018230.

3. Žaloudík J, Talač R, Vagunda V et al. Sarkomy měkkých tkání – přehled novějších diagnostických a léčebných postupů. Klin Onkol 2000; 13 (5): 143–150.

4. Houfková K, Hatina J. Novinky z genetiky, molekulární biologie a klinické onkologie sarkomů. Klin Onkol 2020; 33 (1): 66–78. doi: 10.14735/amko202066.

5. Jaber OI, Kirby PA. Alveolar soft part sarcoma. Arch Pathol Lab Med 2015; 139 (11): 1459–1462. doi: 10.5858/arpa.2014-0385-RS.

6. Palouzzi L, Maki RG. Diagnosis, prognosis, and treatment of alveolar soft-part sarcoma: a review. JAMA Oncol 2019; 5 (2): 254–260. doi: 10.1001/jamaoncol.2018.4490.

7. Chang X, Li Y, Xue X et al. The current management of alveolar soft part sarcomas. Medicine (Baltimore) 2021; 100 (31): e26805. doi: 10.1097/MD.0000000000026 805.

8. Flores RJ, Harrison DJ, Federman NC et al. Alveolar soft part sarcoma in children and young adults: a report of 69 cases. Pediatr Blood Cancer 2018; 65 (5): e26953. doi: 10.1002/pbc.26953.

9. Wang H, Jacobson A, Harmon DC et al. Prognostic factors in alveolar soft part sarcoma: a SEER analysis. J Surg Oncol 2016; 113 (5): 581–586. doi: 10.1002/jso.24183.

10. Lieberman PH, Brennan MF, Kimmel M et al. Alveolar soft-part sarcoma. A clinico-pathologic study of half a century. Cancer 1989; 63 (1): 1–13. doi: 10.1002/ 1097-0142 (19890101) 63: 1<1:: aid-cncr2820630102>3. 0.co; 2-e.

11. Portera CA Jr, Ho V, Patel SR et al. Alveolar soft part sarcoma: clinical course and patterns of metastasis in 70 patients treated at a single institution. Cancer 2001; 91 (3): 585–591. doi: 10.1002/1097-0142 (20010201) 91: 3<585:: aid-cncr1038>3.0.co; 2-0.

12. Ogose A, Yazawa Y, Ueda T et al. Alveolar soft part sarcoma in Japan: multi-institutional study of 57 patients from the Japanese Musculoskeletal Oncology Group Oncology 2003; 65 (1): 7–13. doi: 10.1159/000071199.

13. Ogura K, Beppu Y, Chuman H et al. Alveolar soft part sarcoma: a single-center 26-patient case series and review of the literature. Sarcoma 2012; 2012: 907179. doi: 10.1155/2012/907179.

14. Pappo AS, Parham DM, Cain A et al. Alveolar soft part sarcoma in children and adolescents: clinical features and outcome of 11 patients. Med Pediatr Oncol 1996; 26 (2): 81–84. doi: 10.1002/ (SICI) 1096-911X (199602) 26: 2<81:: AID-MPO2>3.0.CO; 2-Q.

15. Casanova M, Ferrari A, Bisogno G et al. Alveolar soft part sarcoma in children and adolescents: a report from the Soft-Tissue Sarcoma Italian Cooperative Group. Ann Oncol 2000; 11 (11): 1445–1449. doi: 10.1023/a: 1026579623136.

16. Kayton ML, Meyers P, Wexler LH et al. Clinical presentation, treatment, and outcome of alveolar soft part sarcoma in children, adolescents, and young adults. J Pediatr Surg 2006; 41 (1): 187–193. doi: 10.1016/j.jpedsurg.2005.10.023.

17. Orbach D, Brennan B, Casanova M et al. Paediatric and adolescent alveolar soft part sarcoma: a joint series from European cooperative groups. Pediatr Blood Cancer 2013; 60 (11): 1826–1832. doi: 10.1002/pbc.24683.

18. Brennan B, Zanetti I, Orbach D et al. Alveolar soft part sarcoma in children and adolescents: The European Paediatric Soft Tissue Sarcoma study group prospective trial (EpSSG NRSTS 2005). Pediatr Blood Cancer 2018; 65 (4). doi: 10.1002/pbc.26942.

19. Tan Z, Liu J, Xue R et al. Clinical features and therapeutic outcomes of alveolar soft part sarcoma in children: a single-center, retrospective study. Front Oncol 2022; 12: 1019911. doi: 10.3389/fonc.2022.1019911.

20. Fujiwara T, Nakata E, Kunisada T et al. Alveolar soft part sarcoma: progress toward improvement in survival? A population-based study. BMC Cancer 2022; 22 (1): 891. doi: 10.1186/s12885-022-09968-5.

21. Hagerty BL, Aversa J, Diggs LP et al. Characterization of alveolar soft part sarcoma using a large national database. Surgery 2020; 168 (5): 825–830. doi: 10.1016/j.surg.2020.06.007.

22. Wilky BA, Trucco MM, Subhawong TK et al. Axitinib plus pembrolizumab in patients with advanced sarcomas including alveolar soft-part sarcoma: a single-centre, single-arm, phase 2 trial. Lancet Oncol 2019; 20 (6): 837–848. doi: 10.1016/S1470-2045 (19) 30153-6.

23. Liu J, Gao T, Tan Z et al. Phase II study of TQB2450, a novel PD-L1 antibody, in combination with anlotinib in patients with locally advanced or metastatic soft tissue sarcoma. Clin Cancer Res 2022; 28 (16): 3473–3479. doi: 10.1158/1078-0432.CCR-22-0871.